SAMD9L

sterile alpha motif domain containing 9 like
OMIM: 611170
PanelMode of inheritanceDetails
5 panels
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
159550 Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome, 159550
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: miscellaneous, Ataxia Pancytopenia Syndrome, MDS, AML
R-numbers: R54
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia-pancytopenia syndrome, 159550
R-numbers: R347
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
R-numbers: R15
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction, MDS, neurological features, Bone marrow failure, Combined immunodeficiencies with associated or syndromic features